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Condition report · Cancer

FANCM-Related Genomic Instability Disorder

A rare inherited condition in which cells are less able to repair certain DNA damage, which may be linked to cancer risk and reduced fertility. It is caused by changes in both copies of the FANCM gene.

A condition report looks for rare variants known to cause the conditions it covers.

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The condition we analyse

Autosomal recessive

Caused by changes that stop both copies of the FANCM gene from working. FANCM acts in the Fanconi anaemia DNA repair pathway, and cells show increased chromosome breakage.

Signs and symptoms

Reported features include reduced fertility, such as absent sperm production in men and early loss of ovarian function in women. Many features are still being defined because few people have been described.

What a diagnosis changes

Diagnosis allows cancer treatment to be planned with care. Cancer surveillance and fertility counselling may be offered by specialist teams. Genetic counselling is recommended, and carrier testing is available for relatives.

Genes analysed

MONDO:0100578Sources: [1][4][2][5]

References

  1. Arora H, Chacon AH, Choudhary S, McLeod MP, Meshkov L, Nouri K et al., 2015. Bloom syndrome. International journal of dermatology
  2. Panday A, Willis NA, Elango R, Menghi F, Duffey EE, Liu ET et al., 2021. FANCM regulates repair pathway choice at stalled replication forks. Molecular cell
  3. Malcher A, Stokowy T, Berman A, Olszewska M, Jedrzejczak P, Sielski D et al., 2022. Whole-genome sequencing identifies new candidate genes for nonobstructive azoospermia. Andrology
  4. Feng S, Liu K, Shang J, Hoeg L, Pastore G, Yang W et al., 2024. Profound synthetic lethality between SMARCAL1 and FANCM. Molecular cell
  5. França MM, Mendonca BB, 2022. Genetics of ovarian insufficiency and defects of folliculogenesis. Best practice & research. Clinical endocrinology & metabolism

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